{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,8]],"date-time":"2025-11-08T13:47:39Z","timestamp":1762609659359},"reference-count":29,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,1,11]]},"DOI":"10.7759\/cureus.52091","type":"journal-article","created":{"date-parts":[[2024,1,11]],"date-time":"2024-01-11T13:04:39Z","timestamp":1704978279000},"source":"Crossref","is-referenced-by-count":1,"title":["Uncovering the Challenges of Rare Diseases: Insights From a Retrospective Cross-Sectional Study in Albania (2005-2022)"],"prefix":"10.7759","author":[{"given":"Adela","family":"Perolla","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elsuarta","family":"\u00c7alliku","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alma","family":"Cili","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatjana","family":"Caja","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Polikron","family":"Pulluqi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arben","family":"Ivanaj","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","unstructured":"Public Law 107 - 280 - Rare Diseases Act of 2002. (2023). Accessed. January 11, 2024: https:\/\/www.govinfo.gov\/app\/details\/PLAW-107publ280."},{"key":"ref2","unstructured":"Regulation (EC) No 141\/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal products. (2000). Accessed. November 13, 2023: https:\/\/eur-lex.europa.eu\/LexUriServ\/LexUriServ.do?uri=OJ:L:2000:018:0001:0005:en:PDF."},{"key":"ref3","doi-asserted-by":"crossref","unstructured":"{BLR 1412} FDA - Orphan Drug - ABC - PMA. (1993). Accessed. November 13, 2023: https:\/\/www.liebertpub.com\/doi\/10.1089\/blr.1993.12.13.","DOI":"10.1089\/blr.1993.12.13"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0140002","article-title":"Access to orphan drugs: a comprehensive review of legislations, regulations and policies in 35 countries","volume":"10","author":"Gammie T","year":"2015","unstructured":"Gammie T, Lu CY, Babar ZU. Access to orphan drugs: a comprehensive review of legislations, regulations and policies in 35 countries. PLoS One. 2015, 10:e0140002. 10.1371\/journal.pone.0140002","journal-title":"PLoS One"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-019-0508-0","article-title":"Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database","volume":"28","author":"Nguengang Wakap S","year":"2020","unstructured":"Nguengang Wakap S, Lambert DM, Olry A, et al.. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020, 28:165-73. 10.1038\/s41431-019-0508-0","journal-title":"Eur J Hum Genet"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1101\/mcs.a006204","article-title":"2022: a pivotal year for diagnosis and treatment of rare genetic diseases","author":"Kingsmore SF","year":"2022","unstructured":"Kingsmore SF. 2022: a pivotal year for diagnosis and treatment of rare genetic diseases. Cold Spring Harbor Laboratory Press, Long Island, NY; 2022. 10.1101\/mcs.a006204"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.3390\/ijerph20064732","article-title":"Enhancing equitable access to rare disease diagnosis and treatment around the world: a review of evidence, policies, and challenges","volume":"20","author":"Adachi T","year":"2023","unstructured":"Adachi T, El-Hattab AW, Jain R, et al.. Enhancing equitable access to rare disease diagnosis and treatment around the world: a review of evidence, policies, and challenges. Int J Environ Res Public Health. 2023, 20:4732. 10.3390\/ijerph20064732","journal-title":"Int J Environ Res Public Health"},{"key":"ref8","unstructured":"Rare diseases impact more people than cancer and AIDS combined. (2023). Accessed. September 5, 2023: https:\/\/globalgenes.org\/rare-disease-facts\/."},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(17)32154-2","article-title":"Global, regional, and national incidence, prevalence, and years lived with disability for 328 diseases and injuries for 195 countries, 1990-2016: a systematic analysis for the Global Burden of Disease Study 2016","volume":"390","author":"Vos T","year":"2017","unstructured":"Vos T, Abajobir AA, Abbafati C. Global, regional, and national incidence, prevalence, and years lived with disability for 328 diseases and injuries for 195 countries, 1990-2016: a systematic analysis for the Global Burden of Disease Study 2016. Lancet. 2017, 390:1211-59. 10.1016\/S0140-6736(17)32154-2","journal-title":"Lancet"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2022.832063","article-title":"Rare disease registries are key to evidence-based personalized medicine: highlighting the European experience","volume":"13","author":"K\u00f6lker S","year":"2022","unstructured":"K\u00f6lker S, Gleich F, M\u00fctze U, Opladen T. Rare disease registries are key to evidence-based personalized medicine: highlighting the European experience. Front Endocrinol (Lausanne). 2022, 13:832063. 10.3389\/fendo.2022.832063","journal-title":"Front Endocrinol (Lausanne)"},{"key":"ref11","unstructured":"The portal for rare diseases and orphan drugs. (2019). Accessed. December 13, 2022: https:\/\/www.orpha.net\/consor\/cgi-bin\/OC_Exp.php?lng=EN&amp;Expert=824."},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1111\/ejh.12256","article-title":"Epidemiology of myelofibrosis, essential thrombocythemia, and polycythemia vera in the European Union","volume":"92","author":"Moulard O","year":"2014","unstructured":"Moulard O, Mehta J, Fryzek J, Olivares R, Iqbal U, Mesa RA. Epidemiology of myelofibrosis, essential thrombocythemia, and polycythemia vera in the European Union. Eur J Haematol. 2014, 92:289-97. 10.1111\/ejh.12256","journal-title":"Eur J Haematol"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1053\/j.seminhematol.2023.03.008","article-title":"The epidemiology of Waldenstr\u00f6m macroglobulinemia","volume":"60","author":"McMaster ML","year":"2023","unstructured":"McMaster ML. The epidemiology of Waldenstr\u00f6m macroglobulinemia. Semin Hematol. 2023, 60:65-72. 10.1053\/j.seminhematol.2023.03.008","journal-title":"Semin Hematol"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.4065\/78.1.21","article-title":"Review of 1027 patients with newly diagnosed multiple myeloma","volume":"78","author":"Kyle RA","year":"2003","unstructured":"Kyle RA, Gertz MA, Witzig TE, et al.. Review of 1027 patients with newly diagnosed multiple myeloma. Mayo Clin Proc. 2003, 78:21-33. 10.4065\/78.1.21","journal-title":"Mayo Clin Proc"},{"key":"ref15","article-title":"Langerhans cell histiocytosis","author":"Tillotson CV","year":"2023","unstructured":"Tillotson CV, Anjum F, Patel BC. Langerhans cell histiocytosis. StatPearls. StatPearls Publishing, Treasure Island, FL; 2023."},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.18459","article-title":"Incidence, prevalence and survival in patients with Langerhans cell histiocytosis: a national registry study from England, 2013-2019","volume":"199","author":"Liu H","year":"2022","unstructured":"Liu H, Stiller CA, Crooks CJ, et al.. Incidence, prevalence and survival in patients with Langerhans cell histiocytosis: a national registry study from England, 2013-2019. Br J Haematol. 2022, 199:728-38. 10.1111\/bjh.18459","journal-title":"Br J Haematol"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1080\/08880018.2018.1545814","article-title":"Outcome of children with Langerhans cell histiocytosis and single-system involvement: a retrospective study at a single center in Shanghai, China","volume":"35","author":"Su M","year":"2018","unstructured":"Su M, Gao YJ, Pan C, Chen J, Tang JY. Outcome of children with Langerhans cell histiocytosis and single-system involvement: a retrospective study at a single center in Shanghai, China. Pediatr Hematol Oncol. 2018, 35:385-92. 10.1080\/08880018.2018.1545814","journal-title":"Pediatr Hematol Oncol"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1111\/imj.13160","article-title":"Changing prognosis in paroxysmal nocturnal haemoglobinuria disease subcategories: an analysis of the International PNH Registry","volume":"46","author":"Soci\u00e9 G","year":"2016","unstructured":"Soci\u00e9 G, Schrezenmeier H, Muus P, et al.. Changing prognosis in paroxysmal nocturnal haemoglobinuria disease subcategories: an analysis of the International PNH Registry. Intern Med J. 2016, 46:1044-53. 10.1111\/imj.13160","journal-title":"Intern Med J"},{"key":"ref19","article-title":"Paroxysmal nocturnal hemoglobinuria","author":"Shah N","year":"2023","unstructured":"Shah N, Bhatt H. Paroxysmal nocturnal hemoglobinuria. StatPearls. StatPearls Publishing, Treasure Island, FL; 2023."},{"key":"ref20","unstructured":"Paroxysmal nocturnal hemoglobinuria. (2023). Accessed. January 11, 2024: https:\/\/www.orpha.net\/consor\/cgi-bin\/OC_Exp.php?Lng=GB&amp;Expert=447."},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.3390\/jcm12010085","article-title":"Global incidence and prevalence of Gaucher disease: a targeted literature review","volume":"12","author":"Castillon G","year":"2022","unstructured":"Castillon G, Chang SC, Moride Y. Global incidence and prevalence of Gaucher disease: a targeted literature review. J Clin Med. 2022, 12:85. 10.3390\/jcm12010085","journal-title":"J Clin Med"},{"key":"ref22","unstructured":"Niemann-Pick disease type C. (2021). Accessed. January 11, 2023: https:\/\/www.orpha.net\/consor\/cgi-bin\/OC_Exp.php?Expert=646#:~:text=Epidemiology,1%2F45%2C000%2D286%2C000%20worldwide.."},{"key":"ref23","article-title":"Factor XIII deficiency","author":"Mangla A","year":"2023","unstructured":"Mangla A, Hamad H, Kumar A. Factor XIII deficiency. StatPearls. StatPearls Publishing, Treasure Island, FL; 2023."},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2516.2008.01856.x","article-title":"Diagnosis and treatment of inherited factor X deficiency","volume":"14","author":"Brown DL","year":"2008","unstructured":"Brown DL, Kouides PA. Diagnosis and treatment of inherited factor X deficiency. Haemophilia. 2008, 14:1176-82. 10.1111\/j.1365-2516.2008.01856.x","journal-title":"Haemophilia"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1101\/2023.09.29.23296356","article-title":"Epidemiology and nomogram development for chronic eosinophilic leukemia, not otherwise specified (CEL-NOS): insights from the SEER database [PREPRINT]","author":"Wang F","year":"2023","unstructured":"Wang F. Epidemiology and nomogram development for chronic eosinophilic leukemia, not otherwise specified (CEL-NOS): insights from the SEER database [PREPRINT]. Medrixiv. 2023, 10.1101\/2023.09.29.23296356","journal-title":"Medrixiv"},{"key":"ref26","article-title":"Fanconi anemia","author":"Bhandari J","year":"2023","unstructured":"Bhandari J, Thada PK, Puckett Y. Fanconi anemia. StatPearls. StatPearls Publishing, Treasure Island, FL; 2023."},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9544-4","article-title":"The incidence of inherited porphyrias in Europe","volume":"36","author":"Elder G","year":"2013","unstructured":"Elder G, Harper P, Badminton M, Sandberg S, Deybach JC. The incidence of inherited porphyrias in Europe. J Inherit Metab Dis. 2013, 36:849-57. 10.1007\/s10545-012-9544-4","journal-title":"J Inherit Metab Dis"},{"key":"ref28","article-title":"Castleman disease","author":"Ehsan N","year":"2023","unstructured":"Ehsan N, Zahra F. Castleman disease. StatPearls. StatPearls Publishing, Treasure Island, FL; 2023."},{"key":"ref29","article-title":"Common variable immunodeficiency","author":"Pescador Ruschel MA","year":"2023","unstructured":"Pescador Ruschel MA, Vaqar S. Common variable immunodeficiency. StatPearls. StatPearls Publishing, Treasure Island, FL; 2023."}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/209101-uncovering-the-challenges-of-rare-diseases-insights-from-a-retrospective-cross-sectional-study-in-albania-2005-2022","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T20:14:25Z","timestamp":1707509665000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/209101-uncovering-the-challenges-of-rare-diseases-insights-from-a-retrospective-cross-sectional-study-in-albania-2005-2022"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1,11]]},"references-count":29,"URL":"https:\/\/doi.org\/10.7759\/cureus.52091","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2024,1,11]]}}}